Cytogenetic investigation of couples with recurrent spontaneous miscarriages

Abstract

Background & Objective: Spontaneous pregnancy loss has always been the frustrating experience for the couples and concern clinician. Chromosomal abnormality in either of the parent is considered to be the one of the leading cause of recurrent spontaneous miscarriages. This study was designed to evaluate the possible chromosomal etiology of miscarriage and the subsequent intimacy of maternal or paternal genetic abnormality.
 Methods: This case-control study was conducted between January 2016 and October 2016 at a tertiary care hospital in Karachi. A total of thirty-two couples were selected who had suffered with recurrent spontaneous miscarriages (RSM). Using conventional cytogenetic technique karyotyping was performed on all of the subjects. For the control twenty couples were also selected with no history of pregnancy loss. All the karyotypes were recorded on the standard method. Data was analyzed through SPSS version 22.
 Results: Among thirty-two cases nine cases were found to have abnormal karyotype. In which sex chromosomal trisomy=02 (46,XY/47,XXY), marker chromosome=01 (47,XX,+mar), Robertsonian translocation=01 (45,XY,der,(14:21),(q10;q10)), reciprocal translocation=01 (46,XX,t(11;22)(q23;q11.2)), inversion=02 (46,XX,inv(9)(p11q13)) and minor structural abnormalities=02 (46,XX,15PS+) were found. Approximately equal ratio with 1:1.25 was observed among male and female carrier respectively. Non-significant difference was found between the ages of both carriers (p=0.34). Though a significant different value was calculated in the case of number of miscarriage (p=0.004*). Moreover, no significant association was found among spontaneous miscarriage (SM) and recurrent spontaneous miscarriage (RSM) with respect to maternal age (p= 0.157).
 Conclusion: In the recent study possible chromosomal abnormalities suggested the evaluation of the patient with the history of recurrent spontaneous miscarriage must include conventional cytogenetic. Moreover, probe development and extended investigation can ease the prognosis among pregnancy related complication.
 doi: https://doi.org/10.12669/pjms.35.5.678
 How to cite this:Hanif MI, Khan A, Arif A, Shoeb E. Cytogenetic investigation of couples with recurrent spontaneous miscarriages. Pak J Med Sci. 2019;35(5):---------. doi: https://doi.org/10.12669/pjms.35.5.678
 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Cross-sectional study of chromosomal aberrations and immunologic factors in Iraqi couples with recurrent pregnancy loss

“…The presence of structural chromosomal abnormalities and lack of numerical abnormalities were other findings in this study that were not predictable. The lack of numerical abnormalities in this study was in contrast to the previous studies by Hanif et al (2019) from Pakistan, Ghazaey et al (2015) from Iran, and Elkarhat et al (2019) from Morocco. The structural chromosomal abnormalities encountered in this study were as follows: balanced Robertsonian translocation (2/7), unbalanced Robertsonian translocation (1/7), pericentric inversion (1/7), polymorphic variants (1/7), and addition (2/7).…”

“…In this study, statistical analysis revealed that there was a direct significant correlation between the number of RPL and the age of the female partners, and the likelihood of abortion increased with age. This finding was in contrast to a previous study from Pakistan ( Hanif et al, 2019 ) but in line with a study from China ( Sheng et al, 2021 ). Further, scientists believe that marriage and pregnancy of a mother at older age increase the risk of abortion, fetal and chromosomal problems, and pregnancy-related complications.…”

“…Moreover, chromosomal abnormalities were higher in females (10.0%) than in males (4.0%). In a previous study by Hanif et al (2019) from Pakistan, 28.1% of the studied couples with recurrent spontaneous miscarriages had chromosome abnormalities which was nearly eqal to this study. They also reported chromosomal abnormalities in 55.6% of females and 44.4% of males, indicating almost equal prevalence in both genders, which was in contrast to the current research.…”

The pattern of chromosomal abnormalities in recurrent miscarriages: a single center retrospective study

“… 1 The etiology of RM is often uncertain and may involve several factors including uterine malformations, thrombophilia, immunological, endocrinological disorders, infectious, environmental and parental or fetal chromosomal abnormalities. 2 In 50% of the couples with RM, the specific cause remains unexplained and is regarded as idiopathic or unexplained RM. 3 Parental chromosomal abnormalities have been estimated to affect 3%-5% of cases.…”

Immunogenetic aspects of idiopathic recurrent miscarriage in the Kazakh population

“…Recurrent miscarriage (RM) is a heterogeneous disorder (two or more spontaneous miscarriages) in the reproductive period that affects up to 3% of couples [ 1 – 3 ]. The American Society for Reproductive Medicine (ASRM) considers that the recurrence rate and risk factors for two consecutive pregnancy losses are similar to those observed after three losses [1, 4–11].…”